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HelpTest Code PRKSG PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Ordering Guidance
Testing for the PRKAR1A gene as part of a customized panel is available. For more information CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for variants identified in the PRKAR1A gene. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. PRKAR1A-Related Disorders Patient Information (T820)
3. PRKAR1A Full Gene Analysis (PRKSG) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance
Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
PRKAR1A Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Maleszewski JJ, Larsen BT, Kip NS, et al: PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors. Am J Surg Pathol. 2014 Aug;38(8):1079-1087 doi: 10.1097/PAS.0000000000000202
2. Rhayem Y, Le Stunff C, Abdel Khalek W, et al: Functional characterization of PRKAR1A mutations reveals a unique molecular mechanism causing acrodysostosis but multiple mechanisms causing Carney complex. J Biol Chem. 2015 Nov13;290(46):27816-27828. doi: 10.1074/jbc.M115.656553
3. Salpea P, Horvath A, London E, et al: Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. J Clin Endocrinol Metab. 2014 Jan;99(1):E183-E188. doi: 10.1210/jc.2013-3159
4. Stratakis CA, Raygada M: Carney complex. In: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated August 16, 2018. Accessed September 22, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1286/
5. Nagasaki K, Iida T, Sato H, et al: PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. J Clin Endocrinol Metab. 2012 Sep;97(9):E1808-E1813. doi: 10.1210/jc.2012-1369
6. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PRKSG | PRKAR1A Full Gene Analysis | 94214-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617436 | Test Description | 62364-5 |
| 617437 | Specimen | 31208-2 |
| 617438 | Source | 31208-2 |
| 617439 | Result Summary | 50397-9 |
| 617440 | Result | 82939-0 |
| 617441 | Interpretation | 69047-9 |
| 617442 | Additional Results | 82939-0 |
| 617443 | Resources | 99622-3 |
| 617444 | Additional Information | 48767-8 |
| 617445 | Method | 85069-3 |
| 617446 | Genes Analyzed | 48018-6 |
| 617447 | Disclaimer | 62364-5 |
| 617448 | Released By | 18771-6 |